Autosomal Dominant Juvenile Amyotrophic LS

J Gordon Millichap
1999 Pediatric Neurology Briefs  
Rochester, MN 55905). COMMENT. This simple fluorescence assay should be helpful in the investigation of children with developmental disorders and progressive neuro¬ degenerative diseases and the exclusion of sphingolipid-storage diseases in patients with atypical or mild variants. In a commentary by Bryan Winchester, Institute of Child Health, London (Lancet Sept 11, 1999;354:879-880), the method is described as potentially an important advance. He suggests that adaptation of the method to
more » ... the method to allow measurement of the fluorescence using microtitre-plate technology in whole cells, preferably white blood cells, would simplify the procedure and avoid the delay and cost of culturing fibroblasts.
doi:10.15844/pedneurbriefs-13-9-9 fatcat:a7fngmpx6ze3fjoikfx6uxva3e